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Association of a functional variant downstream of TNFAIP3 with systemic lupus erythematosus
- Adrianto, Indra (author)
- Wen, Feng (author)
- Templeton, Amanda (author)
- show more...
- Wiley, Graham (author)
- King, Jarrod B. (author)
- Lessard, Christopher J. (author)
- Bates, Jared S. (author)
- Hu, Yanqing (author)
- Kelly, Jennifer A. (author)
- Kaufman, Kenneth M. (author)
- Guthridge, Joel M. (author)
- Alarcon-Riquelme, Marta E. (author)
- Anaya, Juan-Manuel (author)
- Bae, Sang-Cheol (author)
- Bang, So-Young (author)
- Boackle, Susan A. (author)
- Brown, Elizabeth E. (author)
- Petri, Michelle A. (author)
- Ramsey-Goldman, Rosalind (author)
- Reveille, John D. (author)
- Vila, Luis M. (author)
- Criswell, Lindsey A. (author)
- Edberg, Jeffrey C. (author)
- Freedman, Barry I. (author)
- Gregersen, Peter K. (author)
- Gilkeson, Gary S. (author)
- Jacob, Chaim O. (author)
- James, Judith A. (author)
- Kamen, Diane L. (author)
- Kimberly, Robert P. (author)
- Martin, Javier (author)
- Merrill, Joan T. (author)
- Niewold, Timothy B. (author)
- Park, So-Yeon (author)
- Pons-Estel, Bernardo A. (author)
- Scofield, R. Hal (author)
- Stevens, Anne M. (author)
- Tsao, Betty P. (author)
- Vyse, Timothy J. (author)
- Langefeld, Carl D. (author)
- Harley, John B. (author)
- Moser, Kathy L. (author)
- Webb, Carol F. (author)
- Humphrey, Mary Beth (author)
- Montgomery, Courtney Gray (author)
- Gaffney, Patrick M. (author)
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- (creator_code:org_t)
- 2011-02-20
- 2011
- English.
- In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 43:3, s. 253-258
- Journal article (peer-reviewed)
Abstract
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- Systemic lupus erythematosus (SLE, MIM152700) is an autoimmune disease characterized by self-reactive antibodies resulting in systemic inflammation and organ failure. TNFAIP3, encoding the ubiquitin-modifying enzyme A20, is an established susceptibility locus for SLE. By fine mapping and genomic re-sequencing in ethnically diverse populations, we fully characterized the TNFAIP3 risk haplotype and identified a TT>A polymorphic dinucleotide (deletion T followed by a T to A transversion) associated with SLE in subjects of European (P = 1.58 x 10(-8), odds ratio = 1.70) and Korean (P = 8.33 x 10(-10), odds ratio = 2.54) ancestry. This variant, located in a region of high conservation and regulatory potential, bound a nuclear protein complex composed of NF-kappa B subunits with reduced avidity. Further, compared with the non-risk haplotype, the haplotype carrying this variant resulted in reduced TNFAIP3 mRNA and A20 protein expression. These results establish this TT>A variant as the most likely functional polymorphism responsible for the association between TNFAIP3 and SLE.
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- MEDICINE
- MEDICIN
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